| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-80 |
Sentence |
denotes |
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. |
| T2 |
81-170 |
Sentence |
denotes |
Alpers' syndrome is a fatal neurogenetic disorder first described more than 70 years ago. |
| T3 |
171-403 |
Sentence |
denotes |
It is an autosomal recessive, developmental mitochondrial DNA depletion disorder characterized by deficiency in mitochondrial DNA polymerase gamma (POLG) catalytic activity, refractory seizures, neurodegeneration, and liver disease. |
| T4 |
404-630 |
Sentence |
denotes |
In two unrelated pedigrees of Alpers' syndrome, each affected child was found to carry a homozygous mutation in exon 17 of the POLG locus that led to a Glu873Stop mutation just upstream of the polymerase domain of the protein. |
| T5 |
631-802 |
Sentence |
denotes |
In addition, each affected child was heterozygous for the G1681A mutation in exon 7 that led to an Ala467Thr substitution in POLG, within the linker region of the protein. |
